Individual #00001516

ID_report -
Reference -
Remarks -
Gender F
Consanguinity -
Country -
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases CSS
Owner name Gijs Santen


Phenotypes

syndrome, Coffin-Siris (CSS) (CSS)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000000698 - CSS brith 40w, weight SD -0.5, OFC SD; self mutilation; MRI-brain hypoplasia of occipital lobes,arachnoid cysts; no eczema (-HP:0000964); no growth abnormality (-HP:0001507); no hearing loss (-HP:0000365); moderate intellectual disability; hyperactivity (HP:0000752); sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); flat (depressed/low) nasal bridge (HP:0005280), no anteverted nares (-HP:0000463); short philtrum (HP:0000322), wide philtrum (HP:0000289); no wide mouth (-HP:0000154); no cleft palate (-HP:0000175); normal ears (-HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no brachydactyly (-HP:000156); small nails 5th only; no prominent interphalangeal joints (-HP:0006237) , no prominent distal phalange;; no joint laxity (-HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); recurrent infections (HP:0002719); hypermetropia (HP:000540); Isolated (sporadic) 01y10m - - - - Gijs Santen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000001287 DNA SEQ - - ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCE1 7 Gijs Santen
0000001341 DNA MLPA - - ARID1B Not yet submitted Gijs Santen



Variants

7 entries on 1 page. Showing entries 1 - 7.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
6 Unknown ?/? - VUS g.157100061_157100069dup g.156778927_156778935dup - - ARID1B_000051 - - - - Unknown - - - - - Gijs Santen ARID1B - - - - - - NM_020732.3:c.998_1006dup - r.(?) p.(Gly333_Gly335dup) - - - - - - - - - - - - - - - - - - - -
6 Unknown ?/? - VUS g.157100061_157100069dup g.156778927_156778935dup - - ARID1B_000051 - - - - Unknown - - - - - Gijs Santen ARID1B - - - - - - NM_020732.3:c.998_1006dup - r.(?) p.(Gly333_Gly335dup) - - - - - - - - - - - - - - - - - - - -
9 Unknown ?/? - VUS g.2039793A>C g.2039793A>C - - SMARCA2_000040 - - - - Unknown - - - - - Gijs Santen SMARCA2 - - - - - - NM_003070.3:c.683A>C - r.(?) p.(Gln228Pro) - - - - - - - - - - - - - - - - - - - -
9 Unknown ?/? - VUS g.2083337del g.2083337del - - SMARCA2_000036 - - - - Unknown - - - - - Gijs Santen SMARCA2 - - - - - - NM_003070.3:c.2349-10del - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
9 Unknown ?/? - VUS g.2088650del g.2088650del - - SMARCA2_000029 - - - - Unknown - - - - - Gijs Santen SMARCA2 - - - - - - NM_003070.3:c.2883+37del - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
9 Unknown ?/? - VUS g.2182290G>A g.2182290G>A - - SMARCA2_000052 - - - - Unknown - - - - - Gijs Santen SMARCA2 - - - - - - NM_003070.3:c.4461+48G>A - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
9 Unknown ?/? - VUS g.2191309C>G g.2191309C>G - - SMARCA2_000034 - - - - Unknown - - - - - Gijs Santen SMARCA2 - - - - - - NM_003070.3:c.4638C>G - r.(?) p.(Asp1546Glu) - - - - - - - - - - - - - - - - - - - -
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